Canonical Allele Identifier: CA418808464
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2769840
ClinVar RCV Id: RCV003578922
dbSNP Id: rs1353586276
gnomAD v2: 1-94463507-G-A
gnomAD v4: 1-93997951-G-A
MyVariant Identifiers: chr1:g.94463507G>A (hg19) chr1:g.93997951G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997951G>A , CM000663.2:g.93997951G>A GRCh38
NC_000001.10:g.94463507G>A , CM000663.1:g.94463507G>A GRCh37
NC_000001.9:g.94236095G>A NCBI36
NG_009073.1:g.128199C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6639C>T MANE Select ENSP00000359245.3:p.Ser2213=
ENST00000370225.3:c.6639C>T ENSP00000359245.3:p.Ser2213=
ENST00000536513.5:c.3015C>T ENSP00000439707.2:p.Ser1005=
NM_000350.2:c.6639C>T NP_000341.2:p.Ser2213=
NM_000350.3:c.6639C>T MANE Select NP_000341.2:p.Ser2213=
Search 100 bp 5'
Search 100 bp 3'